Biology:KCNV2
 Generic protein structure example |
Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene.[1][2] The protein encoded by this gene is a voltage-gated potassium channel subunit.[1][2]
KCNV2 retinopathy
KCNV2 retinopathy, historically referred to as cone dystrophy with supernormal rod electroretinogram, is a rare autosomal recessive inherited retinal dystrophy caused by biallelic pathogenic variants in the KCNV2 gene.[3] The condition typically presents in childhood with reduced visual acuity, photophobia, impaired color vision, and progressive central visual loss, while night vision may be relatively preserved in early stages.
A defining feature of the disorder is a characteristic full-field electroretinography profile. Scotopic responses may show disproportionately large b-wave amplitudes at higher stimulus intensities, whereas photopic responses are markedly delayed and reduced. This electrophysiological pattern is considered highly suggestive of KCNV2-associated retinopathy and may be present even when funduscopic or structural retinal changes are minimal.[4]
The KCNV2 gene encodes a modulatory subunit of voltage-gated potassium channels expressed in photoreceptors. Pathogenic variants are thought to disrupt normal photoreceptor signaling, resulting in combined cone dysfunction and abnormal rod responses. Additional descriptive electrophysiological and genetic case documentation has been made available through open research repositories.[5]
References
- ↑ 1.0 1.1 "Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome". Proc Natl Acad Sci U S A 99 (12): 7986–91. Jun 2002. doi:10.1073/pnas.122617999. PMID 12060745. Bibcode: 2002PNAS...99.7986O.
- ↑ 2.0 2.1 "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev 57 (4): 473–508. Dec 2005. doi:10.1124/pr.57.4.10. PMID 16382104.
- ↑ Wu H, Cowing JA, Michaelides M, et al. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause cone dystrophy with supernormal rod electroretinogram in humans. American Journal of Human Genetics. 2006;79(3):574–579. doi:10.1086/507568.
- ↑ Wissinger B, Dangel S, Jägle H, et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Investigative Ophthalmology & Visual Science. 2008;49(2):751–757. doi:10.1167/iovs.07-0471.
- ↑ Lindamulage, Suneth Dayan. "Speaking Waves, Silent Genes: The Mystery of the Whispering Retina — Unraveling the ERG–WES Paradox in Cone Dystrophy with Supernormal Rod Response (CDSRR) - First clinically and electrophysiologically reported case of KCNV2 Retinopathy from Sri Lanka". https://doi.org/10.6084/m9.figshare.30148852.
Further reading
- "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.". Am. J. Hum. Genet. 79 (3): 574–9. 2006. doi:10.1086/507568. PMID 16909397.
- Ben Salah S et al. (2008). "Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.". Am. J. Ophthalmol. 145 (6): 1099–106. doi:10.1016/j.ajo.2008.02.004. PMID 18400204. http://www.hal.inserm.fr/inserm-00259328/document.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol.". Channels (Austin) 1 (4): 263–72. 2007. doi:10.4161/chan.4946. PMID 18708743.
- "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.". Mol. Vis. 8: 196–204. 2002. PMID 12107411.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.". Ophthalmic Genet. 28 (3): 135–42. 2007. doi:10.1080/13816810701503681. PMID 17896311.
- "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369–74. 2004. doi:10.1038/nature02465. PMID 15164053. Bibcode: 2004Natur.429..369H.
- "Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.". Invest. Ophthalmol. Vis. Sci. 49 (2): 751–7. 2008. doi:10.1167/iovs.07-0471. PMID 18235024.
External links
- Kv8.2+Potassium+Channel at the US National Library of Medicine Medical Subject Headings (MeSH)
- KCNV2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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